Canonical Allele Identifier: CA406373508

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2586782
• ClinVar RCV Id: RCV003341845
• gnomAD v4: 19-45364040-G-C
• MyVariant Identifiers: chr19:g.45867298G>C (hg19) ; chr19:g.45364040G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364040G>C , CM000681.2:g.45364040G>C	GRCh38
NC_000019.9:g.45867298G>C , CM000681.1:g.45867298G>C	GRCh37
NC_000019.8:g.50559138G>C	NCBI36
NG_007067.2:g.11548C>G , LRG_461:g.11548C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.895C>G	ENSP00000375808.4:p.Arg299Gly
ENST00000682414.1:c.895C>G	ENSP00000507019.1:p.Arg299Gly
ENST00000682508.1:n.924C>G
ENST00000684218.1:c.*153C>G	ENSP00000507804.1:n.*153C>G
ENST00000684407.1:c.772C>G	ENSP00000507775.1:p.Arg258Gly
ENST00000684458.1:c.895C>G	ENSP00000508260.1:p.Arg299Gly
ENST00000391945.10:c.895C>G MANE Select	ENSP00000375809.4:p.Arg299Gly
ENST00000586131.6:c.823C>G	ENSP00000464887.1:p.Arg275Gly
ENST00000587376.6:c.18C>G
ENST00000646507.1:n.992C>G
ENST00000391941.6:c.823C>G	ENSP00000375805.2:p.Arg275Gly
ENST00000391944.7:c.661C>G	ENSP00000375808.3:p.Arg221Gly
ENST00000391945.8:c.895C>G	ENSP00000375809.3:p.Arg299Gly
ENST00000485403.6:c.823C>G	ENSP00000431229.2:p.Arg275Gly
ENST00000586131.5:c.823C>G	ENSP00000464887.1:p.Arg275Gly
ENST00000587376.5:c.18C>G
ENST00000591309.5:c.*153C>G	ENSP00000465207.1:n.*153C>G
NM_000400.3:c.895C>G , LRG_461t1:c.895C>G	NP_000391.1:p.Arg299Gly
NM_001130867.1:c.823C>G	NP_001124339.1:p.Arg275Gly
XM_011526611.1:c.817C>G	XP_011524913.1:p.Arg273Gly
XR_935763.1:n.942C>G
XM_011526611.2:c.817C>G	XP_011524913.1:p.Arg273Gly
XM_017026467.1:c.772C>G	XP_016881956.1:p.Arg258Gly
XR_001753633.2:n.942C>G
XR_001753634.2:n.942C>G
NM_000400.4:c.895C>G MANE Select	NP_000391.1:p.Arg299Gly
NM_001130867.2:c.823C>G	NP_001124339.1:p.Arg275Gly